Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes... |
OMIM:158600 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... |
OMIM:608358 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Nonaka Myopathy |
|
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, High palate, In... |
OMIM:620246 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, High pala... |
OMIM:617066 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Rimmed vacuoles |
OMIM:604454 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy,... |
ORPHA:86812 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... |
OMIM:618823 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... |
ORPHA:266 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Inc... |
ORPHA:276435 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne... |
OMIM:181400 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... |
ORPHA:596 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... |
OMIM:608099 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakne... |
OMIM:500002 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Centrally nucleated skeletal muscle fibers, Difficulty walking, Dystonia,... |
ORPHA:401768 |
Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Type 1 muscle fiber predominance |
OMIM:616304 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... |
OMIM:609524 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait... |
ORPHA:309169 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexio... |
OMIM:255200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... |
OMIM:612937 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... |
OMIM:300717 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Pyloric stenosis, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyo... |
OMIM:616924 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po... |
OMIM:619565 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, High palate, Narrow mouth, Weakness ... |
OMIM:615959 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Waddling gait, Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flex... |
ORPHA:280333 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, H... |
OMIM:616313 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, H... |
OMIM:609285 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Ataxia, Inability to walk, Gait ataxia, High palate, Increased variability in muscle fiber diamet... |
OMIM:617915 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Benign Samaritan Congenital Myopathy |
|
Narrow mouth, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fi... |
ORPHA:324581 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, High p... |
ORPHA:171442 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skeletal muscle fibers, Co... |
OMIM:248800 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Achilles tendon... |
ORPHA:353 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
OMIM:255310 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Steppage gait,... |
OMIM:608340 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Steppage gait, D... |
ORPHA:399086 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Dental... |
OMIM:617258 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Impaired tande... |
OMIM:619574 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Cleft pala... |
OMIM:614399 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Dystonia |
OMIM:615159 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contr... |
ORPHA:75840 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... |
ORPHA:97240 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Myopathy, Distal, 3 |
|
Split hand, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J... |
OMIM:610099 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipid droplets... |
OMIM:619065 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Deep philtrum, High palate, Type 1 muscle fiber predo... |
OMIM:619542 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nuclea... |
OMIM:619518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr... |
OMIM:603511 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Pyloric sten... |
ORPHA:169189 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Dental crowding, Centrally nucleated skeletal m... |
OMIM:620351 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Weakness of faci... |
OMIM:620265 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... |
OMIM:620285 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Tongue fasciculations |
ORPHA:238329 |
Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... |
ORPHA:98911 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diamet... |
OMIM:620161 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross... |
OMIM:619903 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Flexion contracture, High palate, Increased variability in muscle fiber diameter, C... |
OMIM:616470 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Spastic gait, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Ataxia |
OMIM:545000 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthro... |
OMIM:619334 |
Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, High palate, Talipes equinovarus, Type 1 muscle fi... |
OMIM:617336 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Myopathy, High palate, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Open mouth, Increased variability in muscle fiber diameter |
OMIM:616816 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle ... |
ORPHA:353327 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... |
OMIM:226670 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Broad-based gait, Intestinal pseudo-obstruction, Ataxi... |
OMIM:607459 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Craniofacial dystonia, Plantar flexion contracture, Arthrogryposis-like ... |
OMIM:620011 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ataxia, Increased variability in muscle fiber diameter, Gait disturbance |
OMIM:125250 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, High palate,... |
ORPHA:171881 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Tongue fasciculations |
OMIM:300816 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr... |
OMIM:254090 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial m... |
OMIM:618416 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers, Ataxia, Difficulty walking |
OMIM:618242 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil... |
ORPHA:171436 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers, Difficulty walking |
OMIM:500003 |
Native American Myopathy |
|
Skeletal muscle atrophy, Submucous cleft soft palate, Inability to walk, Abnormality of skeletal ... |
ORPHA:168572 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Myopathy, High palate, Arthrogry... |
OMIM:201550 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Centrally nuc... |
OMIM:616503 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Abnormality of the dentition |
OMIM:613752 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Wide mouth, Increased variability in muscle fiber diameter, Left ventricular noncompaction, Incre... |
OMIM:617228 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis,... |
OMIM:617675 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis |
OMIM:617235 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615368 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter |
OMIM:614096 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Spinocerebellar Ataxia 28 |
|
Ragged-red muscle fibers, Limb ataxia, Gait ataxia, Lower limb hypertonia, Dystonia |
OMIM:610246 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Flexion contracture, High palate, Long philtrum, Increased variability in muscle ... |
OMIM:619026 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia |
ORPHA:480 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Myopathy, Increased variability in muscle fiber dia... |
ORPHA:397744 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Central Core Disease |
|
Multiple joint contractures, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance, Pel... |
ORPHA:597 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Abnormality of the tongue, Opisthotonus, Tip-toe gait, G... |
ORPHA:216866 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Ragged-red muscle fibers, Unsteady gait, Dysme... |
OMIM:616479 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy,... |
ORPHA:254886 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Skeletal muscle atrophy, Ataxia, Head titubation, Inability to walk, Oromandibula... |
ORPHA:300605 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Titubation, Gait ataxia, Gait disturbance, Dystonia, Abnormal posturing, Hypomimi... |
ORPHA:225147 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Pyloric stenosis, Flexion contracture, Ileus, Skeleta... |
OMIM:613327 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Tremor, Increased variability in muscle fiber diameter, Dysmetria, Increased muscle glycogen cont... |
ORPHA:502423 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Spinocerebellar Ataxia Type 18 |
|
Skeletal muscle atrophy, Dysmetria, Gait ataxia, Titubation, Head tremor |
ORPHA:98771 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Overlapping toe, Camptodactyly of finger, Submucous cleft hard palate, Cle... |
OMIM:114300 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, High palate, Arthrogryposis multiplex congenita, Clinodactyly, Increased end... |
ORPHA:178148 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Hig... |
OMIM:616866 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98855 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Ragged-red muscle fibers, Flexion contracture, Truncal ataxia, Left ventricular noncompac... |
OMIM:252011 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Bilateral talipes equinovarus, Incre... |
OMIM:617302 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variabilit... |
ORPHA:52430 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... |
OMIM:616331 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, Tapered finger, High, narrow palate, Narrow palate, Type 1 muscle fiber predomin... |
OMIM:612949 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, ... |
OMIM:157640 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Brachydactyly, Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Clinoda... |
OMIM:618529 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98863 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98853 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, High pa... |
ORPHA:324604 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Thin upper lip ... |
OMIM:619173 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Brachydactyly, Rhizomelia, Cleft hard palate, Fibular hypoplasia, Genu valgum, Knee flexion contr... |
ORPHA:166016 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue |
OMIM:602541 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:3201 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Testicular dysge... |
ORPHA:168563 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... |
OMIM:255125 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... |
OMIM:620107 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, High palate, Difficulty wal... |
OMIM:164310 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub... |
ORPHA:2712 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, ... |
ORPHA:369840 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overlapping fingers, Narrow palate, Femoral bowing, Macroglossia, High palate, Talip... |
OMIM:617022 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Unsteady gait, Abnormality of the calf musculature... |
ORPHA:600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, High palate, Increased variability in muscle fiber diameter, Limb dystonia |
OMIM:604377 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Facial hypotonia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hi... |
OMIM:618106 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... |
OMIM:619461 |
Huntington Disease-Like 1 |
|
Abnormal posturing, Gait disturbance, Dysmetria, Gait ataxia |
ORPHA:157941 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Advanced erupti... |
ORPHA:2348 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... |
ORPHA:250999 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph... |
ORPHA:2756 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Tented upper lip vermilion, Cleft soft palate, Eosinophi... |
OMIM:615582 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Sandifer Syndrome |
|
Esophagitis, Torticollis, Abnormal posturing, Hiatus hernia |
ORPHA:71272 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Hemidystonia, Tapered finger, Tremor, Submucous cleft hard... |
OMIM:619680 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Tented upper lip vermi... |
OMIM:619424 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Tracheoesophageal fistul... |
ORPHA:3068 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Intestinal pseudo-obstr... |
ORPHA:70595 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, High palate, Facial palsy |
OMIM:616720 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Metatarsus adductus, Clinodactyly, Submucous cleft hard pa... |
ORPHA:2804 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Cleft soft palate, Myopathy, Talipes equinovarus, Type 1 ... |
OMIM:614557 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Delayed... |
OMIM:609441 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cleft palate, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture,... |
OMIM:613150 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short humerus, Short femur, Ragged-red muscle fibers, Flexion contractur... |
ORPHA:17 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... |
ORPHA:2751 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Abnormality of the philtrum, Micromelia, Flexion contracture, Submucous ... |
ORPHA:2671 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Submucous cleft hard palate, Cleft palate, Muscular dystrophy, Metatarsu... |
ORPHA:899 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Cleft palate, Myopathy, High pala... |
OMIM:242840 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Ataxia, Pyloric stenosis, Submucous cl... |
ORPHA:457279 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Limb hypertonia |
ORPHA:99742 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf... |
OMIM:614701 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate |
OMIM:619122 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Submucous cleft hard palate, Flexion contracture, High palate, Stipple... |
OMIM:222765 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Facial palsy, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c... |
ORPHA:178303 |
Hydrolethalus |
|
Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, Gingival cleft... |
ORPHA:2189 |
Myhre Syndrome |
|
Short palm, Submucous cleft hard palate, Gingival cleft, Cleft palate, Skeletal muscle hypertroph... |
ORPHA:2588 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Micropeni... |
OMIM:618280 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... |
OMIM:619314 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrop... |
OMIM:618891 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula, Finger joint hypermobility |
OMIM:601492 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence,... |
OMIM:117650 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the epiphysis of the femoral head, Cleft soft palate, Coxa ... |
ORPHA:93316 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narro... |
OMIM:164220 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dental crowding, Ataxia, Tremor, High, narrow palate, Wide mouth, Left ventricular... |
OMIM:300967 |
Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes ... |
OMIM:618733 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Cree Mental Retardation Syndrome |
|
Rocker bottom foot, Cutaneous finger syndactyly, Cleft soft palate |
OMIM:606851 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... |
OMIM:612863 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Pyloric st... |
ORPHA:2461 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, N... |
ORPHA:1071 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Robin sequence, ... |
OMIM:108300 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Inability to walk, Flexio... |
ORPHA:258 |
Polymyositis |
|
Gait disturbance, Abnormal muscle fiber morphology |
ORPHA:732 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Cleft hard pal... |
OMIM:300990 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Diastasis recti, Unilateral hypoplasia of pectoralis major muscle, Bifid uterus, Abno... |
ORPHA:1521 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum, Adducted thumb |
ORPHA:293725 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Broad distal phalanx of the toes, Deep philtrum, Thin ... |
OMIM:619194 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Deep philtrum, Flexion contracture, Kne... |
OMIM:619503 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate... |
OMIM:619103 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Abnormal dental enamel morphology, Facial palsy, High, narrow palate, Abnormal... |
ORPHA:2658 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defe... |
OMIM:274000 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Absent thumb, Cleft lip, Short thumb, Partial duplication of thumb phalanx, Hi... |
ORPHA:124 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion |
ORPHA:3109 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Broad-based gait, Ataxia, Cleft soft palate, Tapered finger, Abnormal toe morpholo... |
ORPHA:268261 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Desmosterolosis |
|
Intestinal malrotation, Micromelia, Metatarsus adductus, Submucous cleft hard palate, Cleft palat... |
ORPHA:35107 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Delayed skel... |
ORPHA:90793 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Diastasis recti, Submucous cleft hard palate, High palate, Narrow mouth, Clinodac... |
OMIM:618971 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Cr... |
ORPHA:2879 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate, Short distal phalanx of finger |
OMIM:609166 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Deep philtrum, ... |
OMIM:115150 |
Meier-Gorlin Syndrome 5 |
|
Irregular femoral epiphysis, Submucous cleft hard palate, Patellar aplasia, Hypoplasia of the cap... |
OMIM:613805 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal... |
ORPHA:235 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Facial hypotonia, Broad hallux, Postaxial polydactyly, Aplasia of the vagina, Aplasia of the uter... |
ORPHA:457284 |
Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Patellar aplasia, Clef... |
ORPHA:2554 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Patellar hypoplasia, Femoral bowing, Tibial bowing, ... |
OMIM:114290 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Unilateral cleft palate, Abnormality of the dentition, Carious ... |
ORPHA:1299 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, Ataxia, 2... |
ORPHA:3455 |
Zttk Syndrome |
|
Abnormality of the dentition, Flexion contracture, Submucous cleft hard palate, Small hand, Downt... |
OMIM:617140 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Increased intramyocellular lipid drople... |
ORPHA:79102 |
Viss Syndrome |
|
Long toe, Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cle... |
OMIM:619472 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Carious teeth, Velopharyngeal insufficiency, Submucous cle... |
OMIM:223370 |
Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus deformity, Widely spaced ... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus deformity, Short philtrum... |
ORPHA:261537 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... |
OMIM:276820 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O... |
OMIM:192430 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphal... |
ORPHA:284339 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of t... |
OMIM:271520 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Submucous cleft hard palate, Genu valgum, High palate, Long philtrum |
ORPHA:1340 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus deformity, Short philtrum... |
ORPHA:261552 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Pre... |
OMIM:236680 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Submucous cleft hard palate, Flexion con... |
OMIM:275210 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Carious... |
OMIM:182250 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal distal phalanx morphology of finger, Micromelia, Abnormal metacarpal morphology, Submuco... |
ORPHA:2636 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous... |
OMIM:619539 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Mitral valve prolapse, Hy... |
OMIM:130050 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Decreased muscle mass, Hypospadias, Ventricular septal defect, Short hallux, Ps... |
OMIM:194190 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Micromelia, Bif... |
OMIM:256520 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Prominent fingertip pads, Hypospadias, Ventricular septal defect, Congenital diaphr... |
OMIM:135900 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Cryptorchidism, Long fingers, Upper limb undergrowth, Short foot, Ovarian cyst, Aplasia... |
OMIM:614527 |
Coffin-Siris Syndrome 12 |
|
Facial palsy, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pal... |
OMIM:619325 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Clinodactyly of the 5th finger... |
ORPHA:3047 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachydactyly, Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, Submucous cleft har... |
OMIM:607872 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Absent thumb, Cleft palate, Downturned corners of mouth, Thin vermilion border, S... |
ORPHA:500150 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Submucous cleft hard palate, N... |
ORPHA:1662 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, Uterine rupture |
ORPHA:60030 |
Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Abnormal left ventricle morphology, Primum atrial septal... |
ORPHA:2729 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Bilateral talipes equinovarus, Aplasia of the uterus, Micropenis |
OMIM:614083 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Holoprosencephaly 2 |
|
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... |
OMIM:157170 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Osteoarthritis, Cystocele, Aplasia/... |
ORPHA:286 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis |
ORPHA:391665 |